Copper accumulation, disorders

Parkinson s disease (PD) is a hypokinetic movement disorder 766 Huntington s disease is a hyperkinetic movement disorder 771 Wilson s disease is a disease of copper accumulation 773 Dystonia is characterized by sustained muscle contractions 775 Many drugs and toxins induce movement disorders 776... 

Wilson s disease is an inherited disorder of copper metabolism. Copper accumulates initially in the liver and then in the nervous system, leading to severe liver and neurological disease. The retention of copper begins at birth, but it may take decades before the liver is sufficiently damaged... 

Wilson disease is an autosomal recessive disorder of copper transport (Figure 1). It results in the toxic accumulation of copper in various tissues, but mainly in the liver, kidney, and brain. Wilson disease occurs worldwide with an average prevalence of about 1 in 30 000 in most populations. The age of onset for Wilson disease is variable and can extend from 3-4 years into the mid-50s. There are three phases in the progression of the disease. In the first phase, copper accumulates in the cytoplasm of hepatocytes. As more copper is absorbed, in the second phase the increased concentration of... 

Disorders of Copper Accumulation. One of the most enigmatic diseases of copper accumulation is Wilson s Disease where copper accumulates in the liver, brain, eyes, and kidneys, leading to symptoms of... 

Penicillamine is an effective ehelator of copper, thereby inhibiting lysyl oxidase. Penicillamine is used therapeutically in the treatment of disorders involving copper accumulation (Wilson s disease) or in lead and mercury poisoning. 

In another rare inherited disorder, called Wilson s disease, excessive amounts of copper accumulate in liver and brain tissue. A prominent symptom of the disease is the deposition of copper in greenish-brown layers surrounding the cornea, called Kayser-Fleischer rings. Wilson s disease is now known to be caused by a defective ATP-dependent protein that transports copper across cell membranes. Apparently, the copper transport protein is required to incorporate copper into ceruloplasmin and to excrete excess copper. In addition to a low copper diet, Wilson s disease is treated with zinc sulfate and the chelating agent penicillamine (p. 123). Describe how these treatments work. (Hint Metallothionein has a greater affinity for copper than for zinc.)... 

Hepatolenticular degeneration, Wilson s disease, is a severe heritable disorder of copper metabolism. The defect is caused by diminished synthesis of the copper-transporting protein ceruloplasmin and impaired excretion of copper into the bile. Copper concentration is extremely low in blood serum and high in urine furthermore, copper accumulates in liver, brain, kidney, and cornea. Chelating therapy with D-penicillamine is the medication of choice [48]. To improve copper metabolism, zinc therapy is also used [50]. 

Wilson s disease is an autosomal recessive disorder characterized by the accumulation of copper in liver and brain [21]. Hepatic involvement may result in liver cirrhosis and hepatic cancer. The deposition of copper in the basal ganglia results in a variety of movement disorders, including... 

Although chelation is not helpful for Alzheimer s disease patients, it is the key to treating patients with dementia due to Wilson s disease. Wilson s disease is a genetically inherited disorder that usually strikes before age 30. The disease causes toxic levels of copper to accumulate in the liver, brain, eyes, and kidney. Untreated, Wilson s disease leads to tremors, cirrhosis, depression, psychosis, dementia, and ultimately death. Chelation with penicillamine (Cuprimine) can stop and even reverse the accumulation of copper. 

Evidence is now accumulating to show that reactions involving metals might be the common denominator underlying AD and PD. In these disorders, an abnormal reaction between a protein and a redox-active metal ion (copper or iron) promotes the formation of ROS. It is especially intriguing how the antioxidant Cu/Zn-SOD activity can convert into a pro-oxidant activity, a theme echoed in the recent proposal that Ap and PrP, the proteins respectively involved in AD and prion diseases, possess similar redox properties [Bush, 2002],... 

Wilson s disease, an autosomally recessively inherited disorder, is due to a defect in copper metabolism which leads to an accumulation of the element in the liver. A subse-... 

The human hereditary disorders Wilson s disease and Menkes disease have provided further insight into copper metabolism. In Wilson s disease the ceruloplasmin content is low and copper gradually accumulates to high levels in the liver and brain. In Menkes syndrome, there is also a low ceruloplasmin level and an accumulation of copper in the form of... 

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